The non-communicable conditions including genetic disorders constitute an increasing proportion of still births, child mortality, morbidity and disability.Genetic defects can be either due to single gene mutations, chromosomal abnormalities or at times epigenetic.

For example, any child affected with metabolic disorder or blood related disorders like thalassemia, sickle cell anaemia has multiple anomalies. In such cases parents can be silent carriers and hence the defective gene is passed to their offspring. Despite their clinical diversity, single gene disorders have a common biological basis; have the potential to be passed onto the off spring and all require the same basic genetic disease management. These include accurate diagnosis, risk assessment and information for the affected individual and their family, and access to options for managing risk and services for affected children.

The unfortunate thing about genetic defects is that they have no cure and the affected children struggle to live a normal life depending on the type and severity of the genetic condition. Furthermore, parents have to cope up with the disease and it becomes quite a struggle for them and for the suffering child. Amongst the chromosomal defects, there are multiple ways by which the pregnancy can be affected. Firstly, if either of the parents are carriers of a balanced translocation or a Robertsonian translocation then there are chances that the couple can suffer from recurrent miscarriages due to the uneven chromosome number present in the foetus involved in translocation or they have some chances of having an abnormal child with a chromosomal defect. Secondly the commonest chromosomal defect, trisomy 21, referred to as down's syndrome or mongolism can arise randomly or due to reasons such as advanced maternal age (>35 years). On the other hand, single gene disorders arise in the first place from gene mutation. Since this can occur in any gene, single gene disorders can affect any aspect of structure or function and they are extraordinarily diverse. The adverse outcome of any single gene defect is an affected child born with the abnormality affecting multiple organs.